Canonical Allele Identifier: CA2577767448

Gene: CHKB CHKB-CPT1B

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50582466_50582467del , CM000684.2:g.50582466_50582467del	GRCh38
NC_000022.10:g.51020895_51020896del , CM000684.1:g.51020895_51020896del	GRCh37
NC_000022.9:g.49367761_49367762del	NCBI36
NG_012643.1:g.1203_1204del
NG_029213.1:g.5535_5536del , LRG_855:g.5535_5536del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406938.3:c.224+93_224+94del (CHKB) MANE Select	ENSP00000384400.3:n.224+93_224+94del
ENST00000406938.2:c.224+93_224+94del (CHKB)	ENSP00000384400.2:n.224+93_224+94del
ENST00000463053.1:n.307-108_307-107del (CHKB)
ENST00000476289.5:n.390_391del (CHKB)
ENST00000479003.5:n.356_357del (CHKB)
ENST00000481673.5:n.288+93_288+94del (CHKB)
ENST00000484266.5:n.360_361del (CHKB)
ENST00000492556.5:n.501_502del (CHKB-CPT1B)
ENST00000492582.5:n.390_391del (CHKB)
NM_005198.4:c.224+93_224+94del , LRG_855t1:c.224+93_224+94del (CHKB)	NP_005189.2:n.224+93_224+94del
NR_027928.2:n.442+93_442+94del (CHKB-CPT1B)
NM_005198.5:c.224+93_224+94del (CHKB) MANE Select	NP_005189.2:n.224+93_224+94del